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Title: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Authors: Castilla, Eduardo E.
Affilliation: Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
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Abstract: Case-parent trios were used in a genome wide association study of cleft lip with/without cleft palate (CL/P). SNPs near two genes not previously associated with CL/P [MAFB: most significant SNP rs13041247, with odds ratio per minor allele OR=0.704; 95%CI=0.635,0.778; p=2.05*10−11; and ABCA4: most significant SNP rs560426, with OR=1.432; 95%CI=1.292,1.587; p=5.70*10−12] and two previously identified regions (chr. 8q24 and IRF6) attained genome wide significance. Stratifying trios into European and Asian ancestry groups revealed differences in statistical significance, although estimated effect sizes were similar. Replication studies from several populations showed confirming evidence, with families of European ancestry giving stronger evidence for markers in 8q24 while Asian families showed stronger evidence for MAFB and ABCA4. Expression studies support a role for MAFB in palate development.
Keywords: Cleft lip
Cleft palate
Genome-wide association study
keywords: Lábio leporino
Estudo de Associação Genômica
Fenda palatina
Issue Date: 2010
Publisher: Nature Publishing Group
Citation: BEATY, Terri H. et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet., v. 42, n. 6, p. 525–529, June 2010.
Description: Terri H Beaty1, Jeffrey C Murray2, Mary L Marazita3, Ronald G Munger4, Ingo Ruczinski1, Jacqueline B Hetmanski1, Kung Yee Liang1, Tao Wu1, Tanda Murray1, M Daniele Fallin1, Richard A Redett5, Gerald Raymond5, Holger Schwender1, Shin C Jin1, Margaret E Cooper3, Martine Dunnwald2, Maria A Mansilla2, Elizabeth Leslie2, Stephen Bullard6, Andrew C Lidral6, Lina M Moreno6, Renato Menezes3, Alexandre R Vieira3, Aline Petrin2, Allen J Wilcox7, Rolv T Lie8, Ethylin W Jabs9, Yah Huei Wu-Chou10, Philip K Chen10, Hong Wang11, Xiaoqian Ye9,12, Shangzhi Huang13, Vincent Yeow14, Samuel S Chong15, Sun Ha Jee16, Bing Shi17, Kaare Christensen18, Doheny Kimberly19, W Pugh Elizabeth19, Ling Hua19, E Castilla Eduardo20, Andrew E Czeizel21, Lian Ma22, L Leigh Field23, Lawrence Brody24, Faith Pangilinan24, James L Mills25, Anne M Molloy26, Peadar N Kirke27, John M Scott26, Mauricio Arcos-Burgos28, and Alan F Scott5 1 Johns Hopkins University, School of Public Health, Baltimore, MD 2 Department of Pediatrics, University of Iowa, Iowa City, IA 3 University of Pittsburgh, School of Dental Medicine, Pittsburgh, PA 4 Utah State University, Logan, UT 5 Johns Hopkins University, School of Medicine, Baltimore, MD 6 University of Iowa, Dept. of Orthodontics, Iowa City, IA 7 NIEHS/NIH, Durham, North Carolina 8 University of Bergen, Bergen, Norway 9 Mt. Sinai Medical School, New York, NY 10 Chang Gung Memorial Hospital, Taoyuan, Taiwan 11 Peking University Health Science Center, Beijing, China 12 Wuhan University, Wuhan, China 13 Peking Union Medical College, Beijing, China 14 KK Women’s & Children’s Hospital, Singapore 15 National University of Singapore, Singapore 16 Yonsei University, Epidemiology & Health Promotion, Seoul, Korea 17 West China School of Stomatology, Chengdu, China 18 University of Southern Denmark, Odense, Denmark 19 Center for Inherited Disease Research, Johns Hopkins University, Baltimore MD 20 Department of Genetics, FIOCRUZ, Rio de Janeiro, Brazil 21 Foundation for the Community Control of Hereditary Diseases, Budapest, Hungary 22 School of Stomatology, Beijing University, Beijing, China 23 Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada 24 NHGRI/NIH, Bethesda MD 25 NICHD/NIH, Bethesda, MD 26 Trinity College Dublin, Dublin, Ireland 27 Health Research Board, Dublin, Ireland 28 University of Miami, Miller School of Medicine, Miami, FL.
Copyright: restricted access
Revised document: Não
Publication status: Não publicado
Appears in Collections:IOC - Preprint

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